Article
Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.
Neurobiology of aging - 1 Aug 2012
Mosca Lorena, Lunetta Christian, Tarlarini Claudia, Avemaria Francesca, Maestri Eleonora, Melazzini Mario, Corbo Massimo, Penco Silvana
Abstract excerpt
Mutations in the TARDBP gene are described as a cause of autosomal dominant amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD) with or without motor neuron involvement, and, recently, Parkinson's disease (PD). We hereby describe a family presenting the A382T mutation; t...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.